PRKAG2 c.467-35078C>T

Variant ID: 7-151407801-G-A

NM_016203.3(PRKAG2):c.467-35078C>T

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs7805747
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis.

Human Genomics
Khattab, Ahmed A; Torkamani, Ali A
Publication Date: 2022-10-21

Variant appearance in text: rs7805747
PubMed Link: 36271454
Variant Present in the following documents:
  • Main text
  • 40246_2022_Article_422.pdf
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Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs7805747
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
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Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.

Genes
Šalamon, Špela Š; Bevc, Sebastjan S; Ekart, Robert R; Hojs, Radovan R; Potočnik, Uroš U
Publication Date: 2021-05-28

Variant appearance in text: rs7805747
PubMed Link: 34071541
Variant Present in the following documents:
  • Main text
  • genes-12-00834.pdf
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Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study.

Clinical Epigenetics
Smyth, L J LJ; Kilner, J J; Nair, V V; Liu, H H; Brennan, E E; Kerr, K K; Sandholm, N N; Cole, J J; Dahlström, E E; Syreeni, A A; Salem, R M RM; Nelson, R G RG; Looker, H C HC; Wooster, C C; Anderson, K K; McKay, G J GJ; Kee, F F; Young, I I; Andrews, D D; Forsblom, C C; Hirschhorn, J N JN; Godson, C C; Groop, P H PH; Maxwell, A P AP; Susztak, K K; Kretzler, M M; Florez, J C JC; McKnight, A J AJ
Publication Date: 2021-05-01

Variant appearance in text: rs7805747
PubMed Link: 33933144
Variant Present in the following documents:
  • Main text
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Association Between Variants in Calcineurin Inhibitor Pharmacokinetic and Pharmacodynamic Genes and Renal Dysfunction in Adult Heart Transplant Recipients.

Frontiers In Genetics
Oreschak, Kris K; Saba, Laura M LM; Rafaels, Nicholas N; Ambardekar, Amrut V AV; Deininger, Kimberly M KM; Page, Robert L RL; Lindenfeld, JoAnn J; Aquilante, Christina L CL
Publication Date: 2021

Variant appearance in text: rs7805747
PubMed Link: 33868389
Variant Present in the following documents:
  • Main text
  • fgene-12-658983.pdf
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Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature.

Bmc Medical Genomics
Beyzaei, Zahra Z; Ezgu, Fatih F; Geramizadeh, Bita B; Alborzi, Alireza A; Shojazadeh, Alireza A
Publication Date: 2021-01-28

Variant appearance in text: rs7805747
PubMed Link: 33509202
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_879.pdf
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Mendelian randomization study shows no causal effects of serum urate levels on the risk of MS.

Neurology(R) Neuroimmunology & Neuroinflammation
Harroud, Adil A; Richards, J Brent JB; Baranzini, Sergio E SE
Publication Date: 2021-01

Variant appearance in text: rs7805747
PubMed Link: 33214142
Variant Present in the following documents:
  • NEURIMMINFL2020030502.pdf
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Genetics of diabetic kidney disease: A follow-up study in the Arab population of the United Arab Emirates.

Molecular Genetics & Genomic Medicine
Osman, Wael M WM; Jelinek, Herbert F HF; Tay, Guan K GK; Hassan, Mohamed H MH; Almahmeed, Wael W; Khandoker, Ahsan H AH; Khalaf, Kinda K; Alsafar, Habiba S HS
Publication Date: 2019-12

Variant appearance in text: rs7805747
PubMed Link: 31568687
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patient with a PRKAG2 mutation who developed Immunoglobulin A nephropathy: a case report.

European Heart Journal. Case Reports
Giudici, Michael C MC; Ahmad, Ferhaan F; Holanda, Danniele G DG
Publication Date: 2019-06-01

Variant appearance in text: rs7805747
PubMed Link: 31449595
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Predisposition for Renal Dysfunction and Incidence of CKD in the Malmö Diet and Cancer Study.

Kidney International Reports
Schulz, Christina-Alexandra CA; Engström, Gunnar G; Christensson, Anders A; Nilsson, Peter M PM; Melander, Olle O; Orho-Melander, Marju M
Publication Date: 2019-08

Variant appearance in text: rs7805747
PubMed Link: 31440704
Variant Present in the following documents:
  • Main text
  • main.pdf
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Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.

Journal Of The American Society Of Nephrology : Jasn
Sieber, Karsten B KB; Batorsky, Anna A; Siebenthall, Kyle K; Hudkins, Kelly L KL; Vierstra, Jeff D JD; Sullivan, Shawn S; Sur, Aakash A; McNulty, Michelle M; Sandstrom, Richard R; Reynolds, Alex A; Bates, Daniel D; Diegel, Morgan M; Dunn, Douglass D; Nelson, Jemma J; Buckley, Michael M; Kaul, Rajinder R; Sampson, Matthew G MG; Himmelfarb, Jonathan J; Alpers, Charles E CE; Waterworth, Dawn D; Akilesh, Shreeram S
Publication Date: 2019-02-13

Variant appearance in text: rs7805747
PubMed Link: 30760496
Variant Present in the following documents:
  • Main text
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Functional Prediction of Chronic Kidney Disease Susceptibility Gene PRKAG2 by Comprehensively Bioinformatics Analysis.

Frontiers In Genetics
Wang, Ermin E; Zhao, Hainan H; Zhao, Deyan D; Li, Lijing L; Du, Limin L
Publication Date: 2018

Variant appearance in text: rs7805747
PubMed Link: 30559760
Variant Present in the following documents:
  • Main text
  • fgene-09-00573.pdf
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Genetic contributions to lupus nephritis in a multi-ethnic cohort of systemic lupus erythematous patients.

Plos One
Lanata, Cristina M CM; Nititham, Joanne J; Taylor, Kimberly E KE; Chung, Sharon A SA; Torgerson, Dara G DG; Seldin, Michael F MF; Pons-Estel, Bernardo A BA; Tusié-Luna, Teresa T; Tsao, Betty P BP; Morand, Eric F EF; Alarcón-Riquelme, Marta E ME; Criswell, Lindsey A LA
Publication Date: 2018

Variant appearance in text: rs7805747
PubMed Link: 29953444
Variant Present in the following documents:
  • Main text
  • pone.0199003.pdf
View BVdb publication page



1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Scientific Reports
Gorski, Mathias M; van der Most, Peter J PJ; Teumer, Alexander A; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Nolte, Ilja M IM; Cocca, Massimiliano M; Taliun, Daniel D; Gomez, Felicia F; Li, Yong Y; Tayo, Bamidele B; Tin, Adrienne A; Feitosa, Mary F MF; Aspelund, Thor T; Attia, John J; Biffar, Reiner R; Bochud, Murielle M; Boerwinkle, Eric E; Borecki, Ingrid I; Bottinger, Erwin P EP; Chen, Ming-Huei MH; Chouraki, Vincent V; Ciullo, Marina M; Coresh, Josef J; Cornelis, Marilyn C MC; Curhan, Gary C GC; d'Adamo, Adamo Pio AP; Dehghan, Abbas A; Dengler, Laura L; Ding, Jingzhong J; Eiriksdottir, Gudny G; Endlich, Karlhans K; Enroth, Stefan S; Esko, Tõnu T; Franco, Oscar H OH; Gasparini, Paolo P; Gieger, Christian C; Girotto, Giorgia G; Gottesman, Omri O; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hancock, Stephen J SJ; Harris, Tamara B TB; Helmer, Catherine C; Höllerer, Simon S; Hofer, Edith E; Hofman, Albert A; Holliday, Elizabeth G EG; Homuth, Georg G; Hu, Frank B FB; Huth, Cornelia C; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Imboden, Medea M; Johansson, Åsa Å; Kähönen, Mika M; König, Wolfgang W; Kramer, Holly H; Krämer, Bernhard K BK; Kumar, Ashish A; Kutalik, Zoltan Z; Lambert, Jean-Charles JC; Launer, Lenore J LJ; Lehtimäki, Terho T; de Borst, Martin M; Navis, Gerjan G; Swertz, Morris M; Liu, Yongmei Y; Lohman, Kurt K; Loos, Ruth J F RJF; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; McEvoy, Mark A MA; Meisinger, Christa C; Meitinger, Thomas T; Metspalu, Andres A; Metzger, Marie M; Mihailov, Evelin E; Mitchell, Paul P; Nauck, Matthias M; Oldehinkel, Albertine J AJ; Olden, Matthias M; Wjh Penninx, Brenda B; Pistis, Giorgio G; Pramstaller, Peter P PP; Probst-Hensch, Nicole N; Raitakari, Olli T OT; Rettig, Rainer R; Ridker, Paul M PM; Rivadeneira, Fernando F; Robino, Antonietta A; Rosas, Sylvia E SE; Ruderfer, Douglas D; Ruggiero, Daniela D; Saba, Yasaman Y; Sala, Cinzia C; Schmidt, Helena H; Schmidt, Reinhold R; Scott, Rodney J RJ; Sedaghat, Sanaz S; Smith, Albert V AV; Sorice, Rossella R; Stengel, Benedicte B; Stracke, Sylvia S; Strauch, Konstantin K; Toniolo, Daniela D; Uitterlinden, Andre G AG; Ulivi, Sheila S; Viikari, Jorma S JS; Völker, Uwe U; Vollenweider, Peter P; Völzke, Henry H; Vuckovic, Dragana D; Waldenberger, Melanie M; Jin Wang, Jie J; Yang, Qiong Q; Chasman, Daniel I DI; Tromp, Gerard G; Snieder, Harold H; Heid, Iris M IM; Fox, Caroline S CS; Köttgen, Anna A; Pattaro, Cristian C; Böger, Carsten A CA; Fuchsberger, Christian C
Publication Date: 2017-04-28

Variant appearance in text: rs7805747
PubMed Link: 28452372
Variant Present in the following documents:
  • srep45040-s1.pdf
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Genetic epidemiology in kidney disease.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Ainsworth, Hannah C HC; Langefeld, Carl D CD; Freedman, Barry I BI
Publication Date: 2017-04-01

Variant appearance in text: rs7805747
PubMed Link: 28201750
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physiological Expression of AMPKγ2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice.

The Journal Of Biological Chemistry
Yang, Xiaodong X; Mudgett, John J; Bou-About, Ghina G; Champy, Marie-France MF; Jacobs, Hugues H; Monassier, Laurent L; Pavlovic, Guillaume G; Sorg, Tania T; Herault, Yann Y; Petit-Demoulière, Benoit B; Lu, Ku K; Feng, Wen W; Wang, Hongwu H; Ma, Li-Jun LJ; Askew, Roger R; Erion, Mark D MD; Kelley, David E DE; Myers, Robert W RW; Li, Cai C; Guan, Hong-Ping HP
Publication Date: 2016-11-04

Variant appearance in text: rs7805747
PubMed Link: 27621313
Variant Present in the following documents:
  • Main text
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A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.

Human Molecular Genetics
Lamina, Claudia C; Friedel, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Kollerits, Barbara B; Marques-Vidal, Pedro P; Ried, Janina J; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Kiechl, Stefan S; Raitakari, Olli T OT; Kähönen, Mika M; Willeit, Johann J; Kedenko, Ludmilla L; Paulweber, Bernhard B; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Kronenberg, Florian F
Publication Date: 2016-08-15

Variant appearance in text: rs7805747
PubMed Link: 27412012
Variant Present in the following documents:
  • supp_ddw211_GWA_apoA4_Supplement_Final.pdf
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Influence of common genetic variants on childhood kidney outcomes.

Pediatric Research
Miliku, Kozeta K; Vogelezang, Suzanne S; Franco, Oscar H OH; Hofman, Albert A; Jaddoe, Vincent W V VW; Felix, Janine F JF
Publication Date: 2016-07

Variant appearance in text: rs7805747
PubMed Link: 26959481
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Nature Communications
Pattaro, Cristian C; Teumer, Alexander A; Gorski, Mathias M; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Garnaas, Maija M; Tin, Adrienne A; Sorice, Rossella R; Li, Yong Y; Taliun, Daniel D; Olden, Matthias M; Foster, Meredith M; Yang, Qiong Q; Chen, Ming-Huei MH; Pers, Tune H TH; Johnson, Andrew D AD; Ko, Yi-An YA; Fuchsberger, Christian C; Tayo, Bamidele B; Nalls, Michael M; Feitosa, Mary F MF; Isaacs, Aaron A; Dehghan, Abbas A; d'Adamo, Pio P; Adeyemo, Adebowale A; Dieffenbach, Aida Karina AK; Zonderman, Alan B AB; Nolte, Ilja M IM; van der Most, Peter J PJ; Wright, Alan F AF; Shuldiner, Alan R AR; Morrison, Alanna C AC; Hofman, Albert A; Smith, Albert V AV; Dreisbach, Albert W AW; Franke, Andre A; Uitterlinden, Andre G AG; Metspalu, Andres A; Tonjes, Anke A; Lupo, Antonio A; Robino, Antonietta A; Johansson, Åsa Å; Demirkan, Ayse A; Kollerits, Barbara B; Freedman, Barry I BI; Ponte, Belen B; Oostra, Ben A BA; Paulweber, Bernhard B; Krämer, Bernhard K BK; Mitchell, Braxton D BD; Buckley, Brendan M BM; Peralta, Carmen A CA; Hayward, Caroline C; Helmer, Catherine C; Rotimi, Charles N CN; Shaffer, Christian M CM; Müller, Christian C; Sala, Cinzia C; van Duijn, Cornelia M CM; Saint-Pierre, Aude A; Ackermann, Daniel D; Shriner, Daniel D; Ruggiero, Daniela D; Toniolo, Daniela D; Lu, Yingchang Y; Cusi, Daniele D; Czamara, Darina D; Ellinghaus, David D; Siscovick, David S DS; Ruderfer, Douglas D; Gieger, Christian C; Grallert, Harald H; Rochtchina, Elena E; Atkinson, Elizabeth J EJ; Holliday, Elizabeth G EG; Boerwinkle, Eric E; Salvi, Erika E; Bottinger, Erwin P EP; Murgia, Federico F; Rivadeneira, Fernando F; Ernst, Florian F; Kronenberg, Florian F; Hu, Frank B FB; Navis, Gerjan J GJ; Curhan, Gary C GC; Ehret, George B GB; Homuth, Georg G; Coassin, Stefan S; Thun, Gian-Andri GA; Pistis, Giorgio G; Gambaro, Giovanni G; Malerba, Giovanni G; Montgomery, Grant W GW; Eiriksdottir, Gudny G; Jacobs, Gunnar G; Li, Guo G; Wichmann, H-Erich HE; Campbell, Harry H; Schmidt, Helena H; Wallaschofski, Henri H; Völzke, Henry H; Brenner, Hermann H; Kroemer, Heyo K HK; Kramer, Holly H; Lin, Honghuang H; Leach, I Mateo IM; Ford, Ian I; Guessous, Idris I; Rudan, Igor I; Prokopenko, Inga I; Borecki, Ingrid I; Heid, Iris M IM; Kolcic, Ivana I; Persico, Ivana I; Jukema, J Wouter JW; Wilson, James F JF; Felix, Janine F JF; Divers, Jasmin J; Lambert, Jean-Charles JC; Stafford, Jeanette M JM; Gaspoz, Jean-Michel JM; Smith, Jennifer A JA; Faul, Jessica D JD; Wang, Jie Jin JJ; Ding, Jingzhong J; Hirschhorn, Joel N JN; Attia, John J; Whitfield, John B JB; Chalmers, John J; Viikari, Jorma J; Coresh, Josef J; Denny, Joshua C JC; Karjalainen, Juha J; Fernandes, Jyotika K JK; Endlich, Karlhans K; Butterbach, Katja K; Keene, Keith L KL; Lohman, Kurt K; Portas, Laura L; Launer, Lenore J LJ; Lyytikäinen, Leo-Pekka LP; Yengo, Loic L; Franke, Lude L; Ferrucci, Luigi L; Rose, Lynda M LM; Kedenko, Lyudmyla L; Rao, Madhumathi M; Struchalin, Maksim M; Kleber, Marcus E ME; Cavalieri, Margherita M; Haun, Margot M; Cornelis, Marilyn C MC; Ciullo, Marina M; Pirastu, Mario M; de Andrade, Mariza M; McEvoy, Mark A MA; Woodward, Mark M; Adam, Martin M; Cocca, Massimiliano M; Nauck, Matthias M; Imboden, Medea M; Waldenberger, Melanie M; Pruijm, Menno M; Metzger, Marie M; Stumvoll, Michael M; Evans, Michele K MK; Sale, Michele M MM; Kähönen, Mika M; Boban, Mladen M; Bochud, Murielle M; Rheinberger, Myriam M; Verweij, Niek N; Bouatia-Naji, Nabila N; Martin, Nicholas G NG; Hastie, Nick N; Probst-Hensch, Nicole N; Soranzo, Nicole N; Devuyst, Olivier O; Raitakari, Olli O; Gottesman, Omri O; Franco, Oscar H OH; Polasek, Ozren O; Gasparini, Paolo P; Munroe, Patricia B PB; Ridker, Paul M PM; Mitchell, Paul P; Muntner, Paul P; Meisinger, Christa C; Smit, Johannes H JH; , ; , ; , ; , ; , ; Kovacs, Peter P; Wild, Philipp S PS; Froguel, Philippe P; Rettig, Rainer R; Mägi, Reedik R; Biffar, Reiner R; Schmidt, Reinhold R; Middelberg, Rita P S RP; Carroll, Robert J RJ; Penninx, Brenda W BW; Scott, Rodney J RJ; Katz, Ronit R; Sedaghat, Sanaz S; Wild, Sarah H SH; Kardia, Sharon L R SL; Ulivi, Sheila S; Hwang, Shih-Jen SJ; Enroth, Stefan S; Kloiber, Stefan S; Trompet, Stella S; Stengel, Benedicte B; Hancock, Stephen J SJ; Turner, Stephen T ST; Rosas, Sylvia E SE; Stracke, Sylvia S; Harris, Tamara B TB; Zeller, Tanja T; Zemunik, Tatijana T; Lehtimäki, Terho T; Illig, Thomas T; Aspelund, Thor T; Nikopensius, Tiit T; Esko, Tonu T; Tanaka, Toshiko T; Gyllensten, Ulf U; Völker, Uwe U; Emilsson, Valur V; Vitart, Veronique V; Aalto, Ville V; Gudnason, Vilmundur V; Chouraki, Vincent V; Chen, Wei-Min WM; Igl, Wilmar W; März, Winfried W; Koenig, Wolfgang W; Lieb, Wolfgang W; Loos, Ruth J F RJ; Liu, Yongmei Y; Snieder, Harold H; Pramstaller, Peter P PP; Parsa, Afshin A; O'Connell, Jeffrey R JR; Susztak, Katalin K; Hamet, Pavel P; Tremblay, Johanne J; de Boer, Ian H IH; Böger, Carsten A CA; Goessling, Wolfram W; Chasman, Daniel I DI; Köttgen, Anna A; Kao, W H Linda WH; Fox, Caroline S CS
Publication Date: 2016-01-21

Variant appearance in text: rs7805747
PubMed Link: 26831199
Variant Present in the following documents:
  • ncomms10023-s1.pdf
  • ncomms10023.pdf
View BVdb publication page



Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND).

Plos Genetics
Iyengar, Sudha K SK; Sedor, John R JR; Freedman, Barry I BI; Kao, W H Linda WH; Kretzler, Matthias M; Keller, Benjamin J BJ; Abboud, Hanna E HE; Adler, Sharon G SG; Best, Lyle G LG; Bowden, Donald W DW; Burlock, Allison A; Chen, Yii-Der Ida YD; Cole, Shelley A SA; Comeau, Mary E ME; Curtis, Jeffrey M JM; Divers, Jasmin J; Drechsler, Christiane C; Duggirala, Ravi R; Elston, Robert C RC; Guo, Xiuqing X; Huang, Huateng H; Hoffmann, Michael Marcus MM; Howard, Barbara V BV; Ipp, Eli E; Kimmel, Paul L PL; Klag, Michael J MJ; Knowler, William C WC; Kohn, Orly F OF; Leak, Tennille S TS; Leehey, David J DJ; Li, Man M; Malhotra, Alka A; März, Winfried W; Nair, Viji V; Nelson, Robert G RG; Nicholas, Susanne B SB; O'Brien, Stephen J SJ; Pahl, Madeleine V MV; Parekh, Rulan S RS; Pezzolesi, Marcus G MG; Rasooly, Rebekah S RS; Rotimi, Charles N CN; Rotter, Jerome I JI; Schelling, Jeffrey R JR; Seldin, Michael F MF; Shah, Vallabh O VO; Smiles, Adam M AM; Smith, Michael W MW; Taylor, Kent D KD; Thameem, Farook F; Thornley-Brown, Denyse P DP; Truitt, Barbara J BJ; Wanner, Christoph C; Weil, E Jennifer EJ; Winkler, Cheryl A CA; Zager, Philip G PG; Igo, Robert P RP; Hanson, Robert L RL; Langefeld, Carl D CD; ,
Publication Date: 2015-08

Variant appearance in text: rs7805747
PubMed Link: 26305897
Variant Present in the following documents:
  • Main text
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Genomewide association study of tenofovir pharmacokinetics and creatinine clearance in AIDS Clinical Trials Group protocol A5202.

Pharmacogenetics And Genomics
Wanga, Valentine V; Venuto, Charles C; Morse, Gene D GD; Acosta, Edward P EP; Daar, Eric S ES; Haas, David W DW; Li, Chun C; Shepherd, Bryan E BE
Publication Date: 2015-09

Variant appearance in text: rs7805747
PubMed Link: 26148204
Variant Present in the following documents:
  • Main text
View BVdb publication page



The influence of the CHIEF pathway on colorectal cancer-specific mortality.

Plos One
Slattery, Martha L ML; Lundgreen, Abbie A
Publication Date: 2014

Variant appearance in text: rs7805747
PubMed Link: 25541970
Variant Present in the following documents:
  • Main text
  • pone.0116169.pdf
View BVdb publication page



Genome-wide association study of kidney function decline in individuals of European descent.

Kidney International
Gorski, Mathias M; Tin, Adrienne A; Garnaas, Maija M; McMahon, Gearoid M GM; Chu, Audrey Y AY; Tayo, Bamidele O BO; Pattaro, Cristian C; Teumer, Alexander A; Chasman, Daniel I DI; Chalmers, John J; Hamet, Pavel P; Tremblay, Johanne J; Woodward, Marc M; Aspelund, Thor T; Eiriksdottir, Gudny G; Gudnason, Vilmundur V; Harris, Tamara B TB; Launer, Lenore J LJ; Smith, Albert V AV; Mitchell, Braxton D BD; O'Connell, Jeffrey R JR; Shuldiner, Alan R AR; Coresh, Josef J; Li, Man M; Freudenberger, Paul P; Hofer, Edith E; Schmidt, Helena H; Schmidt, Reinhold R; Holliday, Elizabeth G EG; Mitchell, Paul P; Wang, Jie Jin JJ; de Boer, Ian H IH; Li, Guo G; Siscovick, David S DS; Kutalik, Zoltan Z; Corre, Tanguy T; Vollenweider, Peter P; Waeber, Gérard G; Gupta, Jayanta J; Kanetsky, Peter A PA; Hwang, Shih-Jen SJ; Olden, Matthias M; Yang, Qiong Q; de Andrade, Mariza M; Atkinson, Elizabeth J EJ; Kardia, Sharon L R SL; Turner, Stephen T ST; Stafford, Jeanette M JM; Ding, Jingzhong J; Liu, Yongmei Y; Barlassina, Cristina C; Cusi, Daniele D; Salvi, Erika E; Staessen, Jan A JA; Ridker, Paul M PM; Grallert, Harald H; Meisinger, Christa C; Müller-Nurasyid, Martina M; Krämer, Bernhard K BK; Kramer, Holly H; Rosas, Sylvia E SE; Nolte, Ilja M IM; Penninx, Brenda W BW; Snieder, Harold H; Fabiola Del Greco, M M; Franke, Andre A; Nöthlings, Ute U; Lieb, Wolfgang W; Bakker, Stephan J L SJ; Gansevoort, Ron T RT; van der Harst, Pim P; Dehghan, Abbas A; Franco, Oscar H OH; Hofman, Albert A; Rivadeneira, Fernando F; Sedaghat, Sanaz S; Uitterlinden, André G AG; Coassin, Stefan S; Haun, Margot M; Kollerits, Barbara B; Kronenberg, Florian F; Paulweber, Bernhard B; Aumann, Nicole N; Endlich, Karlhans K; Pietzner, Mike M; Völker, Uwe U; Rettig, Rainer R; Chouraki, Vincent V; Helmer, Catherine C; Lambert, Jean-Charles JC; Metzger, Marie M; Stengel, Benedicte B; Lehtimäki, Terho T; Lyytikäinen, Leo-Pekka LP; Raitakari, Olli O; Johnson, Andrew A; Parsa, Afshin A; Bochud, Murielle M; Heid, Iris M IM; Goessling, Wolfram W; Köttgen, Anna A; Kao, W H Linda WH; Fox, Caroline S CS; Böger, Carsten A CA
Publication Date: 2015-05

Variant appearance in text: rs7805747
PubMed Link: 25493955
Variant Present in the following documents:
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A gene variant in CERS2 is associated with rate of increase in albuminuria in patients with diabetes from ONTARGET and TRANSCEND.

Plos One
Shiffman, Dov D; Pare, Guillaume G; Oberbauer, Rainer R; Louie, Judy Z JZ; Rowland, Charles M CM; Devlin, James J JJ; Mann, Johannes F JF; McQueen, Matthew J MJ
Publication Date: 2014

Variant appearance in text: rs7805747
PubMed Link: 25238615
Variant Present in the following documents:
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  • pone.0106631.pdf
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Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD.

Journal Of The American Society Of Nephrology : Jasn
Ledo, Nora N; Ko, Yi-An YA; Park, Ae-Seo Deok AS; Kang, Hyun-Mi HM; Han, Sang-Youb SY; Choi, Peter P; Susztak, Katalin K
Publication Date: 2015-03

Variant appearance in text: rs7805747
PubMed Link: 25231882
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Integrative biology identifies shared transcriptional networks in CKD.

Journal Of The American Society Of Nephrology : Jasn
Martini, Sebastian S; Nair, Viji V; Keller, Benjamin J BJ; Eichinger, Felix F; Hawkins, Jennifer J JJ; Randolph, Ann A; Böger, Carsten A CA; Gadegbeku, Crystal A CA; Fox, Caroline S CS; Cohen, Clemens D CD; Kretzler, Matthias M; , ; , ; ,
Publication Date: 2014-11

Variant appearance in text: rs7805747
PubMed Link: 24925724
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Generalization of associations of kidney-related genetic loci to American Indians.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Franceschini, Nora N; Haack, Karin K; Almasy, Laura L; Laston, Sandra S; Lee, Elisa T ET; Best, Lyle G LG; Fabsitz, Richard R RR; MacCluer, Jean W JW; Howard, Barbara V BV; Umans, Jason G JG; Cole, Shelley A SA
Publication Date: 2014-01

Variant appearance in text: rs7805747
PubMed Link: 24311711
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DNA hypermethylation and DNA hypomethylation is present at different loci in chronic kidney disease.

Epigenetics
Smyth, Laura J LJ; McKay, Gareth J GJ; Maxwell, Alexander P AP; McKnight, Amy Jayne AJ
Publication Date: 2014-03

Variant appearance in text: rs7805747
PubMed Link: 24253112
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Investigation of known estimated glomerular filtration rate loci in patients with type 2 diabetes.

Diabetic Medicine : A Journal Of The British Diabetic Association
Deshmukh, H A HA; Palmer, C N A CN; Morris, A D AD; Colhoun, H M HM
Publication Date: 2013-10

Variant appearance in text: rs7805747
PubMed Link: 23586973
Variant Present in the following documents:
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  • dme0030-1230.pdf
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Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Olden, Matthias M; Teumer, Alexander A; Bochud, Murielle M; Pattaro, Cristian C; Köttgen, Anna A; Turner, Stephen T ST; Rettig, Rainer R; Chen, Ming-Huei MH; Dehghan, Abbas A; Bastardot, Francois F; Schmidt, Reinhold R; Vollenweider, Peter P; Schunkert, Heribert H; Reilly, Muredach P MP; Fornage, Myriam M; Launer, Lenore J LJ; Verwoert, Germaine C GC; Mitchell, Gary F GF; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Cheng, Ching-Yu CY; Sim, Xueling X; Siscovick, David S DS; Coresh, Josef J; Kao, W H Linda WH; Fox, Caroline S CS; O'Seaghdha, Conall M CM; ,
Publication Date: 2013-06

Variant appearance in text: rs7805747
PubMed Link: 23474010
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Validated SNPs for eGFR and their associations with albuminuria.

Human Molecular Genetics
Ellis, Jaclyn W JW; Chen, Ming-Huei MH; Foster, Meredith C MC; Liu, Ching-Ti CT; Larson, Martin G MG; de Boer, Ian I; Köttgen, Anna A; Parsa, Afshin A; Bochud, Murielle M; Böger, Carsten A CA; Kao, Linda L; Fox, Caroline S CS; O'Seaghdha, Conall M CM; , ; ,
Publication Date: 2012-07-15

Variant appearance in text: rs7805747
PubMed Link: 22492995
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Genome-wide association studies of chronic kidney disease: what have we learned?

Nature Reviews. Nephrology
O'Seaghdha, Conall M CM; Fox, Caroline S CS
Publication Date: 2011-12-06

Variant appearance in text: rs7805747
PubMed Link: 22143329
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Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

Plos Genetics
Böger, Carsten A CA; Gorski, Mathias M; Li, Man M; Hoffmann, Michael M MM; Huang, Chunmei C; Yang, Qiong Q; Teumer, Alexander A; Krane, Vera V; O'Seaghdha, Conall M CM; Kutalik, Zoltán Z; Wichmann, H-Erich HE; Haak, Thomas T; Boes, Eva E; Coassin, Stefan S; Coresh, Josef J; Kollerits, Barbara B; Haun, Margot M; Paulweber, Bernhard B; Köttgen, Anna A; Li, Guo G; Shlipak, Michael G MG; Powe, Neil N; Hwang, Shih-Jen SJ; Dehghan, Abbas A; Rivadeneira, Fernando F; Uitterlinden, André A; Hofman, Albert A; Beckmann, Jacques S JS; Krämer, Bernhard K BK; Witteman, Jacqueline J; Bochud, Murielle M; Siscovick, David D; Rettig, Rainer R; Kronenberg, Florian F; Wanner, Christoph C; Thadhani, Ravi I RI; Heid, Iris M IM; Fox, Caroline S CS; Kao, W H WH; ,
Publication Date: 2011-09

Variant appearance in text: rs7805747
PubMed Link: 21980298
Variant Present in the following documents:
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  • pgen.1002292.pdf
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